ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825359867
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206999
ClinVar RCV Id:
RCV000189150
RCV001265491
RCV003325951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Lys1422Glu
CA317963
NM_001040143.2:c.4264A>G